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Trisomy 14q in myelodysplastic syndromes

✍ Scribed by P.H. Pinkerton; Betty London; I.D. Dubé; J.S. Senn


Book ID
119104693
Publisher
Elsevier Science
Year
1990
Tongue
English
Weight
235 KB
Volume
49
Category
Article
ISSN
0165-4608

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The syndrome of partial trisomy 14q
✍ F. Lo Curto; Paola Maraschio; P. Milanesi; Francesca Severi; A. C. Ugazio; Orset 📂 Article 📅 1976 🏛 Springer 🌐 English ⚖ 616 KB

The case of a 4-month-old male with a de novo partial trisomy for chromosome 14 involving the pl3-+q24 portion is reported. He presented with growth and psychomotor retardation, peculiar facies due to nose-mouth anomalies, monolateral mierophtalmia, high arched palate, and anomalies of hands and fee